Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.Two brothers with keratosis follicularis spinulosa decalvans.Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases.Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girlsClinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature.Substance P in keratosis follicularis spinulosa decalvans.Keratosis follicularis spinulosa decalvans. Report of two cases and literature review.[A case of keratosis follicularis spinulosa decalvans (author's transl)]Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to IsotretinoinKeratosis Follicularis Spinulosa Decalvans Associated wıth Leukonychia.[Keratosis follicularis spinulosa decalvans (Siemens I syndrome), initial results of molecular genetic research]Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae.A rare presentation of keratosis follicularis spinulosa decalvans in female twins.[Keratosis follicularis spinulosa decalvans]Keratosis follicularis spinulosa decalvans in a female.Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids.Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoinKeratosis follicularis spinulosa decalvans: case reportKeratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections[Keratosis follicularis spinulosa decalvans and amino-aciduria (author's transl)]Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch familyKeratosis pilaris and scarring alopecia. Keratosis follicularis spinulosa decalvans[Keratosis follicularis spinulosa decalvans][Keratosis follicularis spinulosa decalvans (Siemens' syndrome) associated with other abnormalities]Keratosis follicularis spinulosa decalvans with birefringent hairs. An association with variable keratodermaKeratosis follicularis spinulosa decalvans: report of a new pedigree[Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage]Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvansMolecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity[Corneal manifestations in keratosis follicularis spinulosa decalvans (Siemens)][Keratosis follicularis spinulosa decalvans associated with patent ductus arteriosus and hypospadia in an Asiatic patient][Keratosis follicularis spinulosa decalvans]Familial keratosis follicularis spinulosa decalvans associated with woolly hairKeratosis follicularis spinulosa decalvans in a family
P921
Q28221318-9F159F93-97EE-44D0-945E-503E5EE79C70Q33593639-24BFB8A9-82F5-4BA1-8944-CA504373AEF2Q33680582-A82EB90A-D179-4035-9400-F02685004AE4Q33682482-7CE6A60D-2B21-42C3-A99E-8090DD8E19F1Q34979977-361F5DC8-1F28-43CC-AAA0-EFF592FB3696Q35195599-9164BA16-483E-42F4-B608-2BBF4A974C6AQ36266422-2F85503F-8508-41C4-893B-F97402E844CEQ37102000-38EA5E90-5054-4F18-96E5-5E1B670F690EQ37317407-EA09C19C-CA84-4EA1-B30B-BBDD32E10202Q38342023-D56AC542-4C35-49C5-926A-ECAD3D5F6322Q38963023-533DC19B-4F9D-4378-BF4E-045EEACD65D7Q39558173-225949C9-A2BB-4987-8E9D-C091C34A5B93Q40144173-893904AC-AEC8-48F2-9253-7CFEF1EBB69BQ41075176-9A3D5D6F-0A59-49E3-B253-D8E94C9C75FCQ41163650-E6236531-C44F-432D-B49D-B8E5FD91E646Q43160630-6EC6D6D4-BECE-4B46-B998-E475ED356E03Q43497259-53926C9B-CA73-4B48-8243-904D3FD0A79FQ46729947-9755F93C-E1C2-4C1D-A54E-DE594F253BFEQ47634126-8818C2C1-2CB0-43A3-AA71-90C5B4CB2134Q50899597-C252A80A-B175-43AB-A675-01EB18B7F524Q51473128-046280AE-4B41-4C34-8667-F7B69ECB03C7Q54453266-4B21EA63-0E16-405C-B0D5-B35C9ACD6A47Q58623304-9CF39B4C-9124-44C3-A2DC-5DC47B63D7CDQ64042256-19E1C91A-2ECF-416A-8E83-0C2B08B9BAA9Q67324303-FC703EE3-C5BC-4A86-B1E8-ADB17C6AC550Q67374721-DB21B2C4-8F3B-478E-B360-43247DA3B57AQ67516894-22F0B115-28F0-4CE2-9B27-FCA1A0BB89C6Q68077283-9E9329AE-8882-40D4-8EA0-9B7229D63267Q68258028-4466F7A7-6538-409B-9898-1320EDC05C27Q69910015-09746F9C-EF8A-4CEB-B302-5C704DA61A58Q70067809-5F306EF0-C627-4FC3-8DAE-CC525DA060FAQ71361285-530E2E57-D13D-43AE-8778-9109AA258CD8Q72931772-6E00DAF1-C722-4A21-8460-21344323C964Q73176745-777FCC0C-BB8E-44B3-A925-2B02C5A6396DQ73814968-7CE96DEC-30D9-4EA1-9F94-7F3E76018DE6Q74535078-5B4BACDD-01BA-4B04-A643-2517642DAD01Q77831492-D2D51251-A9CA-4F5B-BD34-5E69CBA5BFA3Q80434966-F5E5EE13-B83F-44F4-958F-C6ED37DF5BF8Q80669546-F483774A-A137-42F5-A642-95508920F271Q80720229-34ED2FDF-19DD-4563-BA31-81FDD6539587
P921
description
human disease
@en
name
Keratosis follicularis spinulosa decalvans
@de
Keratosis follicularis spinulosa decalvans
@en
kératose folliculaire spinulosa decalvans de Siemens
@fr
تقران جريبي شوكي صالع
@ar
type
label
Keratosis follicularis spinulosa decalvans
@de
Keratosis follicularis spinulosa decalvans
@en
kératose folliculaire spinulosa decalvans de Siemens
@fr
تقران جريبي شوكي صالع
@ar
altLabel
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
@en
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX
@en
KFSDX
@en
Keratosis follicularis spinulosa decalvans cum ophiasi
@en
Keratosis follicularis spinulosa decalvans
@en
prefLabel
Keratosis follicularis spinulosa decalvans
@de
Keratosis follicularis spinulosa decalvans
@en
kératose folliculaire spinulosa decalvans de Siemens
@fr
تقران جريبي شوكي صالع
@ar
P486
P6366
P2293
P2888
P2892
P486
P492
P5270
MONDO:0010637
P6366
2778665560
2910458603